Kim SB - Search Results

1

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.

Chung KW, Kim SB, Cho SY, Hwang SJ, Park SW, Kang SH, Kim J, Yoo JH, Choi BO. Chung KW, et al. Among authors: kim sb, kim j. Exp Mol Med. 2008 Jun 30;40(3):304-12. doi: 10.3858/emm.2008.40.3.304. Exp Mol Med. 2008. PMID: 18587268 Free PMC article.

2

A Family Harboring CMT1A Duplication and HNPP Deletion.

Lee JH, Kang HJ, Song H, Hwang SJ, Cho SY, Kim SB, Kim J, Chung KW, Choi BO. Lee JH, et al. Among authors: kim sb, kim j. J Clin Neurol. 2007 Jun;3(2):101-4. doi: 10.3988/jcn.2007.3.2.101. Epub 2007 Jun 20. J Clin Neurol. 2007. PMID: 19513300 Free PMC article.

3

Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.

Kim HS, Chung KW, Kang SH, Choi SK, Cho SY, Koo H, Kim SB, Choi BO. Kim HS, et al. Among authors: kim sb. Neurogenetics. 2010 Oct;11(4):425-33. doi: 10.1007/s10048-010-0246-5. Epub 2010 May 5. Neurogenetics. 2010. PMID: 20443038

4

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW. Choi BO, et al. Among authors: kim sb, kim sj, kim jw. Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7. Hum Mutat. 2011. PMID: 21480433 Free PMC article.

5

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.

Choi BO, Kim SB, Kanwal S, Hyun YS, Park SW, Koo H, Yoo JH, Hyun JW, Park KD, Choi KG, Chung KW. Choi BO, et al. Among authors: kim sb. Int J Mol Med. 2011 Sep;28(3):389-96. doi: 10.3892/ijmm.2011.678. Epub 2011 Apr 18. Int J Mol Med. 2011. PMID: 21503568

6

Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.

Chung KW, Hyun YS, Lee HJ, Jung HK, Koo H, Yoo JH, Kim SB, Park CI, Kim HN, Choi BO. Chung KW, et al. Among authors: kim sb, kim hn. J Peripher Nerv Syst. 2011 Jun;16(2):143-6. doi: 10.1111/j.1529-8027.2011.00329.x. J Peripher Nerv Syst. 2011. PMID: 21692914

7

Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication.

Kim YH, Chung HK, Park KD, Choi KG, Kim SM, Sunwoo IN, Choi YC, Lim JG, Lee KW, Kim KK, Lee DK, Joo IS, Kwon KH, Gwon SB, Park JH, Kim DS, Kim SH, Kim WK, Suh BC, Kim SB, Kim NH, Sohn EH, Kim OJ, Kim HS, Cho JH, Kang SY, Park CI, Oh J, Shin JH, Chung KW, Choi BO. Kim YH, et al. Among authors: kim ds, kim sb, kim kk, kim wk, kim sh, kim sm, kim nh, kim oj, kim hs. J Clin Neurol. 2012 Jun;8(2):139-45. doi: 10.3988/jcn.2012.8.2.139. Epub 2012 Jun 29. J Clin Neurol. 2012. PMID: 22787498 Free PMC article.

8

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

Kim HJ, Hong YB, Park JM, Choi YR, Kim YJ, Yoon BR, Koo H, Yoo JH, Kim SB, Park M, Chung KW, Choi BO. Kim HJ, et al. Among authors: kim sb, kim yj. Orphanet J Rare Dis. 2013 Jul 12;8:104. doi: 10.1186/1750-1172-8-104. Orphanet J Rare Dis. 2013. PMID: 23844677 Free PMC article.

9

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.

Choi YR, Hong YB, Jung SC, Lee JH, Kim YJ, Park HJ, Lee J, Koo H, Lee JS, Jwa DH, Jung N, Woo SY, Kim SB, Chung KW, Choi BO. Choi YR, et al. Among authors: kim sb, kim yj. BMC Neurol. 2015 Oct 5;15:179. doi: 10.1186/s12883-015-0430-1. BMC Neurol. 2015. PMID: 26437932 Free PMC article.

10

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.

Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO. Park HJ, et al. Among authors: kim sb, kim hi, kim hj, kim dh, kim ej, kim sh. Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506222

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